Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene (Q34281047)

1 August 2017

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene (English)

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progressive myoclonus epilepsy

1 August 2017

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16

Anna-Elina Lehesjoki

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1 August 2017

Verneri Anttila

2

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Aarno Palotie

14

object named as

Aarno Palotie

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1 August 2017

Maria Kousi

1

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1 August 2017

Angela Schulz

3

1 reference

1 August 2017

Stella Calafato

4

1 reference

1 August 2017

Eveliina Jakkula

5

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1 August 2017

Erik Riesch

6

1 reference

1 August 2017

Liisa Myllykangas

7

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1 August 2017

Hannu Kalimo

8

1 reference

1 August 2017

Meral Topçu

9

1 reference

1 August 2017

Sarenur Gökben

10

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1 August 2017

Fusun Alehan

11

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1 August 2017

Johannes R Lemke

12

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1 August 2017

Michael Alber

13

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1 August 2017

Outi Kopra

15

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1 August 2017

language of work or name

English

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publication date

1 June 2012

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Journal of Medical Genetics

1 August 2017

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1 August 2017

49

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1 August 2017

6

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1 August 2017

391-399

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Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Genetic markers of adult obesity risk are associated with greater early infancy weight gain and growth

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

GABAB receptor constituents revealed by tandem affinity purification from transgenic mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Native GABA(B) receptors are heteromultimers with a family of auxiliary subunits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Pentameric Assembly of Potassium Channel Tetramerization Domain-Containing Protein 5

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

PLINK: a tool set for whole-genome association and population-based linkage analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Hedgehog antagonist REN(KCTD11) regulates proliferation and apoptosis of developing granule cell progenitors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

The neuronal ceroid-lipofuscinoses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

REN: a novel, developmentally regulated gene that promotes neural cell differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

A perfect message: RNA surveillance and nonsense-mediated decay

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Progressive myoclonus epilepsies: specific causes and diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Molecular organization of the cullin E3 ligase adaptor KCTD11.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773914

Advances on the Genetics of Mendelian Idiopathic Epilepsies

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22693283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2012-100859

1 reference

1 August 2017

1 reference

1 August 2017

1 reference